Rare diseases

In 2021, Fondazione Cariplo and Fondazione Telethon ETS embarked on a strategic collaboration aimed at supporting basic research in the field of rare diseases, both of genetic and non-genetic origin, with the common goal of expanding knowledge on genes and molecular mechanisms that remain unexplored, thus fostering the development of new therapeutic opportunities.

Basic research, especially in the field of rare diseases, is a crucial but still poorly supported sector in terms of investment, yet it is precisely this type of research on which are based many of the discoveries that pave the way for applied research and understanding of more common diseases.

The initiative between the two Foundations has already led to the publication of three editions of the joint call for proposals through which 59 research projects have been supported to date, with a total value of €14 million; 34 of these have been conducted by organisations working in the local areas where Fondazione Cariplo operates.

The originality of the model – which supports the study of genes, gene families, proteins and mRNA molecules, the function of which remains unclear – has also been acknowledged internationally, with a publication in the scientific journal Drug Discovery Today (March 2024).

In 2024, the two Foundations concluded the third edition of the joint call and, in light of the positive results obtained, decided to renew the collaboration by signing a second Framework Agreement for the three-year period 2025-2027, thereby consolidating a shared commitment to scientific knowledge and innovation in the field of rare diseases.